Ectodermal and Mesodermal Dysplasia With Osseous Involvement

Cole, H. N.

doi:10.1001/archderm.1941.01500050003001

Cited by 38 publications

(7 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Clinical observation, therefore, has been the basis for classification. This symptom complex (2) exemplifies the difiiculties encountered (3,4). The cutaneous defects of this syndrome are the focus of this paper.…”

mentioning

confidence: 77%

Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome

Howell¹,

Freeman²

1989

J Cutan Pathol

View full text Add to dashboard Cite

The 5 major cutaneous defects of development found in focal dermal hypoplasia, an ectomesodermal dysplasia syndrome, are: aplasia cutis congenita, multiform atrophy-like areas, striate, papillomatous, and lipomatous lesions of skin. Subepidermal lipomatosis, present in some lesions, has been reported to be due to absence of dermis or a striking underdevelopment of connective tissue with replacement by adipose tissue from herniation of subcutaneous fat through multiple areas of hypoplasia. We believe this theory to be a major error in interpretation of the microscopic findings. We have had the unique experience of studying 2 patients periodically for 27-30 years and 2 additional patients for a shorter time. Biopsy specimens were removed at intervals for analysis from the same or similar lesions (43 specimens) from these 4 individuals. Our evidence strongly supports the concept that the cutaneous defects of development involving fat cells represent heterotopic fat i.e. a fat nevus resulting from dysplasia, not hypoplasia followed by herniation of subcutaneous fat.

show abstract

mentioning

confidence: 77%

Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome

Howell¹,

Freeman²

1989

J Cutan Pathol

View full text Add to dashboard Cite

show abstract

“…In Clouston's (1939) family with hydrotic ectodermal dysplasia, 2 persons had carcinoma of the skin of the palms, and a third had carcinoma of the tongue. Cole et al (1941) mentioned leukoplakia in association with ectodermal dysplasia. Tylosis (keratosis palmaris et plantaris) has been found associated with carcinoma of the esophagus in 3 families, 2 of them probably related (Howel-Evans et al 1958 andShine &Allison 1966).…”

Section: Discussionmentioning

confidence: 99%

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern

1972

View full text Add to dashboard Cite

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome) is described in a mother and 3 of her 4 children. Autosomal dominant inheritance was suggested in this family. However, genetic heterogeneity may exist in this syndrome. The significance of associated finClings, incluCling carcinoma of the cervix uteri, lacrimal duct stenosis and urinary tract strictures in patients with ectodermal dysplasia is considered.

show abstract

“…1 Cole et al 2 reported a mesoderm and ectoderm dysplasia with bone alterations, probably corresponding to the second publication of this entity. Goltz et al…”

Section: Introductionmentioning

confidence: 95%